Article
New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness.
Metabolism: clinical and experimental - 1 Dec 2012
Bueno María A, Lage Sergio, Delgado Carmen, Andrade Fernando, Couce María L, González-Lamuño Domingo, Pérez Manuel, Aldámiz-Echevarría Luis
Abstract excerpt
OBJECTIVE: To evaluate the protocol we propose for detecting BH(4)-responsive patients and the possibility of delimiting more precisely the population to be tested. METHODS: We recruited 102 phenylketonuric patients on a phenylalanine (Phe)-restricted diet. The initial stage of the protocol was a 24-h BH(4) loading test involving Phe loading and subsequent ingestion of the cofactor, a 50% fall in blood Phe levels...
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